ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_001122955.4(BSCL2):c.88-459G>A rs56135662 0.16808
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001122955.4(BSCL2):c.1153+26C>T rs76184645 0.03990
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001122955.4(BSCL2):c.487-255C>T rs76541361 0.03061
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001122955.4(BSCL2):c.404+207dup rs566098807
NM_001122955.4(BSCL2):c.404+225del rs566098807
NM_001122955.4(BSCL2):c.487-129G>T rs2845671

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